Results 81 to 90 of about 226 (121)
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Muscle & Nerve, 1986
AbstractAn apparently inherited myopathy, characterized by the presence of large numbers of nemaline rods in skeletal muscle fibers, was investigated in five cats. Onset of signs varied from 6 months to 1.5 years of age and consisted of reluctance to move, jerky gait and muscle twitching, hyporeflexia, and muscle wasting, which was most prominent in ...
B J, Cooper +3 more
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AbstractAn apparently inherited myopathy, characterized by the presence of large numbers of nemaline rods in skeletal muscle fibers, was investigated in five cats. Onset of signs varied from 6 months to 1.5 years of age and consisted of reluctance to move, jerky gait and muscle twitching, hyporeflexia, and muscle wasting, which was most prominent in ...
B J, Cooper +3 more
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Neuropediatrics, 1982
Two sisters with congenital nemaline myopathy are described. In both cases almost 70% of muscle fibers contained rods which were selectively localized in the larger ones. The variability coefficient was abnormally increased. Histochemical reactions showed that almost all the muscle fibers were type 1.
G, Scarlato +6 more
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Two sisters with congenital nemaline myopathy are described. In both cases almost 70% of muscle fibers contained rods which were selectively localized in the larger ones. The variability coefficient was abnormally increased. Histochemical reactions showed that almost all the muscle fibers were type 1.
G, Scarlato +6 more
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Progression in nemaline myopathy
Acta Neuropathologica, 1989Four of seven patients with nemaline myopathy had severe, rapidly progressing symptoms. These four showed an increase in acid phosphatase activity in muscle fibers demonstrated by histochemistry and cathepsin B&L activity by biochemical measurement. On electron microscopy, nemaline bodies, occasionally disorganized myofibrils and autophagic vacuoles ...
I, Nonaka +5 more
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Hereditary Occurrence of Nemaline Myopathy
Archives of Neurology, 1965SINCE the original descriptions of nemaline myopathy in 1963 by Shy et al1,2in a four-yearold girl with pelvic and pectoral girdle weakness, other cases from different families have been described.3-5In none of these cases have muscle biopsies proved involvement of other members of the family with an exact disease process.
A J, Spiro, C, Kennedy
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Nemaline and myotubular myopathies
Seminars in Pediatric Neurology, 2002Nemaline myopathy is caused by mutations in one of at least six different genes. The clinical picture also varies widely, in terms of the grade and the distribution of muscle weakness. In familial cases, autosomal-recessive inheritance is more common than autosomal-dominant inheritance, and in some patients the disorder is caused by new dominant ...
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Journal of Neuro-Ophthalmology, 1997
Ophthalmoparesis and ptosis are extremely rare in nemaline myopathy. A 45-year-old man with a long history of bilateral ptosis and a 1-year history of diplopia is reported. Leg and arm weakness and wasting had been present since childhood, with a very slow deterioration over time.
R A, Wright +3 more
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Ophthalmoparesis and ptosis are extremely rare in nemaline myopathy. A 45-year-old man with a long history of bilateral ptosis and a 1-year history of diplopia is reported. Leg and arm weakness and wasting had been present since childhood, with a very slow deterioration over time.
R A, Wright +3 more
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Investigations on the Inheritance of Nemaline Myopathy
Archives of Neurology, 1978Extensive investigations on 11 patients with nemaline myopathy (six index patients, five relatives), their parents, and some healthy relatives were carried out. In one family, nemaline myopathy was inherited as an autosomal dominant trait. No linkage between the locus of nemaline myopathy and the locus of seven informative genetic markers (out of 25 ...
W F, Arts +3 more
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